A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555529



Internal ID18756605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:65866064..65866342hg38UCSC Ensembl
Outerchr18:65865998..65866369hg38UCSC Ensembl
Innerchr18:63533300..63533578hg19UCSC Ensembl
Outerchr18:63533234..63533605hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754276
Samples
Known GenesCDH7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555529
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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